RS606231167 PNPLA6
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What This Variant Does
"CLNSIG=5
Associated Conditions
Hereditary spastic paraplegia 39
Laurence-Moon syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
PNPLA6-related disorder
Hereditary spastic paraplegia
Ataxia-hypogonadism-choroidal dystrophy syndrome
Inborn genetic diseases
Retinal dystrophy
Hereditary spastic paraplegia 39
Laurence-Moon syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
PNPLA6-related disorder
Hereditary spastic paraplegia
Ataxia-hypogonadism-choroidal dystrophy syndrome
Inborn genetic diseases
Other Variants in PNPLA6